Die Reise vom Phaenotyp zum Genotyp : ein Blick hinter die Kulissen einer monogenen Form der Hypertonie [From phenotype to genotype : a glimpse behind the scenes of an unending story]

Mendelian conditions direct attention at basic mechanisms. In the 1990's DNA sequencing allowed elucidating such conditions. We embarked on an unexpected adventure to study a monogenic autosomal-dominant form of hypertension causing also a specific form of short fingers. The gene locus caused a 50 mmHg increase in blood pressure at age of 50. Our clinically based group stumbled to the finish line after 20 years of study. We remained together and proudly persevered. Our findings could be relevant for essential hypertension.